Definition, diagnosis and clinical management of non-obstructive kidney dysplasia: a consensus statement by the ERKNet Working Group on Kidney Malformations

Author:

Kohl Stefan1ORCID,Avni Fred E2,Boor Peter34,Capone Valentina5,Clapp William L6,De Palma Diego7,Harris Tess8,Heidet Laurence910,Hilger Alina C1112,Liapis Helen13,Lilien Marc14,Manzoni Gianantonio15,Montini Giovanni516,Negrisolo Susanna17,Pierrat Marie-Jeanne18,Raes Ann19,Reutter Heiko1220,Schreuder Michiel F21ORCID,Weber Stefanie22,Winyard Paul J D23,Woolf Adrian S2425ORCID,Schaefer Franz26,Liebau Max C1272829ORCID

Affiliation:

1. Department of Pediatrics, University Hospital of Cologne and Faculty of Medicine, University of Cologne , Cologne , Germany

2. Department of Pediatric Imaging, Jeanne de Flandre Hospital, Lille University Hospitals , Lille Cedex, France

3. Institute of Pathology, University Hospital RWTH Aachen , Aachen , Germany

4. Medical Clinic II (Nephrology and Immunology), University Hospital RWTH Aachen , Aachen , Germany

5. Pediatric Nephrology, Dialysis and Transplant Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico , Milan , Italy

6. Department of Pathology, Immunology and Laboratory Medicine, University of Florida , Gainesville , FL, USA

7. Nuclear Medicine Unit, Circolo Hospital and Macchi Foundation , ASST-settelaghi, Varese , Italy

8. The Polycystic Kidney Disease Charity , London , UK

9. Laboratory of Hereditary Kidney Diseases, Université de Paris, Imagine Institute , INSERM UMR 1163, Paris , France

10. APHP, Service de Néphrologie Pédiatrique, Centre de Référence MARHEA, Hôpital universitaire Necker-Enfants malades , Paris , France

11. Department of Pediatrics and Adolescent Medicine, Friedrich-Alexander University of Erlangen-Nürnberg , Erlangen , Germany

12. Research Center On Rare Kidney Diseases (RECORD), University Hospital Erlangen , Erlangen , Germany

13. Nephrology Center, Ludwig Maximilian University (LMU) , Munich , Germany

14. Department of Pediatric Nephrology, Wilhelmina Children's Hospital, University Medical Center Utrecht , Utrecht , The Netherlands

15. Pediatric Urology Unit, Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico , Milan , Italy

16. Department of Clinical Sciences and Community Health, University of Milano , Milan , Italy

17. Laboratory of Immunopathology and Molecular Biology of the Kidney, Department of Women's and Children's Health, University of Padova , Padua , Italy

18. Federation of European Patient Groups affected by Rare/Genetic Kidney Diseases (FEDERG) , Brussels , Belgium

19. Department of Pediatric Nephrology and Rheumatology, Ghent University Hospital , Ghent , Belgium

20. Division of Neonatology and Pediatric Intensive Care Medicine, Department of Pediatric and Adolescent Medicine, Friedrich-Alexander-Universitat Erlangen-Nürnberg , Erlangen , Germany

21. Department of Pediatric Nephrology, Radboud University Medical Center, Radboud Institute for Molecular Life Sciences, Amalia Children's Hospital , Nijmegen , The Netherlands

22. Department of Pediatric Nephrology, Marburg Kidney Research Center, Philipps University , Marburg , Germany

23. University College London Great Ormond Street, Institute of Child Health , London , UK

24. Division of Cell Matrix Biology and Regenerative Medicine, School of Biological Sciences, Faculty of Biology Medicine and Health, University of Manchester , Manchester , UK

25. Royal Manchester Children's Hospital, Manchester University National Health Service Foundation Trust, Manchester Academic Health Science Centre , Manchester , UK

26. Division of Pediatric Nephrology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg , Heidelberg , Germany

27. Center for Molecular Medicine Cologne, University Hospital of Cologne and Faculty of Medicine, University of Cologne , Cologne , Germany

28. Center for Rare Diseases Cologne, University Hospital of Cologne and Faculty of Medicine, University of Cologne , Cologne , Germany

29. Center for Family Health, University Hospital of Cologne and Faculty of Medicine, University of Cologne , Cologne , Germany

Abstract

ABSTRACT Kidney dysplasia is one of the most frequent causes of chronic kidney failure in children. While dysplasia is a histological diagnosis, the term ‘kidney dysplasia’ is frequently used in daily clinical life without histopathological confirmation. Clinical parameters of kidney dysplasia have not been clearly defined, leading to imprecise communication amongst healthcare professionals and patients. This lack of consensus hampers precise disease understanding and the development of specific therapies. Based on a structured literature search, we here suggest a common basis for clinical, imaging, genetic, pathological and basic science aspects of non-obstructive kidney dysplasia associated with functional kidney impairment. We propose to accept hallmark sonographic findings as surrogate parameters defining a clinical diagnosis of dysplastic kidneys. We suggest differentiated clinical follow-up plans for children with kidney dysplasia and summarize established monogenic causes for non-obstructive kidney dysplasia. Finally, we point out and discuss research gaps in the field.

Funder

ERKNet

European Union

DFG

European Research Council

Federal Ministry of Education and Research

Koeln Fortune Program

Gusyk Program

Faculty of Medicine, University of Cologne

Medical Research Council

German Federal Ministry of Research and Education

Publisher

Oxford University Press (OUP)

Subject

Transplantation,Nephrology

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